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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-6589797-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6589797&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6589797,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000361413.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Pro923Leu",
"transcript": "NM_014804.3",
"protein_id": "NP_055619.2",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 967,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": "ENST00000361413.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Pro923Leu",
"transcript": "ENST00000361413.8",
"protein_id": "ENSP00000355250.3",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 967,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": "NM_014804.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Pro624Leu",
"transcript": "NM_001351225.2",
"protein_id": "NP_001338154.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 668,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Pro624Leu",
"transcript": "ENST00000572370.5",
"protein_id": "ENSP00000460050.1",
"transcript_support_level": 2,
"aa_start": 624,
"aa_end": null,
"aa_length": 668,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Pro119Leu",
"transcript": "ENST00000576281.5",
"protein_id": "ENSP00000460156.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 129,
"cds_start": 356,
"cds_end": null,
"cds_length": 390,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2834C>T",
"hgvs_p": "p.Pro945Leu",
"transcript": "XM_011524090.4",
"protein_id": "XP_011522392.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 989,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2834C>T",
"hgvs_p": "p.Pro945Leu",
"transcript": "XM_011524091.3",
"protein_id": "XP_011522393.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 989,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2834C>T",
"hgvs_p": "p.Pro945Leu",
"transcript": "XM_011524095.3",
"protein_id": "XP_011522397.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 989,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2834C>T",
"hgvs_p": "p.Pro945Leu",
"transcript": "XM_017025455.3",
"protein_id": "XP_016880944.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 989,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2834C>T",
"hgvs_p": "p.Pro945Leu",
"transcript": "XM_011524096.3",
"protein_id": "XP_011522398.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 955,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Pro923Leu",
"transcript": "XM_047437193.1",
"protein_id": "XP_047293149.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 933,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Pro646Leu",
"transcript": "XM_011524099.3",
"protein_id": "XP_011522401.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 690,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Pro646Leu",
"transcript": "XM_011524100.4",
"protein_id": "XP_011522402.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 690,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1202C>T",
"hgvs_p": "p.Pro401Leu",
"transcript": "XM_047437195.1",
"protein_id": "XP_047293151.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 445,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*1206C>T",
"hgvs_p": null,
"transcript": "ENST00000542826.6",
"protein_id": "ENSP00000444946.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*1914C>T",
"hgvs_p": null,
"transcript": "ENST00000570790.5",
"protein_id": "ENSP00000460816.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.2574C>T",
"hgvs_p": null,
"transcript": "NR_147086.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.2911C>T",
"hgvs_p": null,
"transcript": "NR_147087.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.3018C>T",
"hgvs_p": null,
"transcript": "NR_147088.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282936",
"gene_hgnc_id": null,
"hgvs_c": "c.*3718C>T",
"hgvs_p": null,
"transcript": "ENST00000634965.3",
"protein_id": "ENSP00000499350.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*1206C>T",
"hgvs_p": null,
"transcript": "ENST00000542826.6",
"protein_id": "ENSP00000444946.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*1914C>T",
"hgvs_p": null,
"transcript": "ENST00000570790.5",
"protein_id": "ENSP00000460816.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*10C>T",
"hgvs_p": null,
"transcript": "ENST00000575027.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.*238C>T",
"hgvs_p": null,
"transcript": "XM_047437194.1",
"protein_id": "XP_047293150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"dbsnp": "rs371406853",
"frequency_reference_population": 0.000011824568,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000103119,
"gnomad_genomes_af": 0.0000262812,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8098409175872803,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.547,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.523,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361413.8",
"gene_symbol": "KIAA0753",
"hgnc_id": 29110,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Pro923Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634965.3",
"gene_symbol": "ENSG00000282936",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*3718C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}